Varaico: Literature-Extracted Genetic Variants

GRIN2C

148 papers

RefSeq Summary

This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to c...

Pfam Domains

ANF_receptoraa 99–290UCSCReceptor family ligand binding region

Lig_chan-Glu_bdaa 435–539UCSCLigated ion channel L-glutamate- and glycine-binding site

Lig_chanaa 552–826UCSCLigand-gated ion channel

NMDAR2_Caa 837–922UCSCN-methyl D-aspartate receptor 2B3 C-terminus

Gene Aliases

HGNC Name

glutamate ionotropic receptor NMDA type subunit 2C

HGNC Previous Symbol

NMDAR2C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000835.6

p.R693P

c.2078G>C

Surrounding Variants

2 papers

NM_000835.6

p.R693C

c.2077C>T

1 paper

NM_000835.6

p.S694R

c.2080A>C

1 paper

NM_000835.6

p.S694R

c.2082T>G

1 paper

NM_000835.6

p.S694R

c.2082T>A

1 paper

NM_000835.6

p.E689*

c.2065G>T

1 paper

NM_000835.6

p.E689K

c.2065G>A

1 paper

NM_000835.6

p.T688M

c.2063C>T

1 paper

NM_000835.6

p.S687N

c.2060G>A

1 paper

NM_000835.6

p.G681V

c.2042G>T

1 paper

NM_000835.6

p.R670W

c.2008C>T

1 paper

NM_000835.6

p.S661*

c.1982C>A

1 paper

NM_000835.6

p.A649T

c.1945G>A